Nasopharyngeal teratoma, congenital diaphragmatic hernia and Dandy–Walker malformation – a yet uncharacterized syndrome. Issue 5 (10th August 2016)

• Record Type: Journal Article
• Authors: Gupta, N.; Shastri, S.; Singh, P.K.; Jana, M.; Mridha, A.; Verma, G.; Kabra, M.
• Is Part Of: Clinical genetics. Volume 90:Issue 5(2016)
• Page Start: 470
• Page End: 471
• Publication Date: 2016-08-10
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.12830
• Languages: English
• ISSNs: 0009-9163

Abstract

Abstract : An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights.